Actualización en el diagnóstico, tratamiento y pronóstico de osteosíntesis imperfecta

Abstract

Introduction: The "brittle bone disease," scientifically known as Osteogenesis Imperfecta, is a genetic disorder that affects the production of collagen in bones, leading to significant susceptibility to fractures and bone weakness. Despite advances in understanding the disease, the diversity in its clinical and genetic manifestations remains a challenge in medicine. Objective: This review aims to provide a more comprehensive and contemporary analysis of the diagnosis, management alternatives, and long-term expectations for affected individuals. Methodology: A bibliographic review was conducted, involving literature searches in medical databases. Results: It was evident that the use of genetic sequencing allows for more accurate diagnosis. Additionally, treatment has evolved towards a multidisciplinary approach, including physiotherapy, orthopedic surgery, and pharmacological therapy with bisphosphonates to increase bone density. The prognosis of these patients has improved, although the quality of life may be affected, especially in severe cases. Recent advances in genetic diagnosis and molecular therapies have completely changed the treatment landscape, offering new hope to patients. Conclusions: Despite these advances, there remains an urgent need to research and develop new, safer, and more effective therapies to enhance the well-being and survival rates of these patients